Varaico: Literature-Extracted Genetic Variants

Gene:PGM1
Variant:p.K419delFs
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PGM1

NM_002633.3:p.K419delFs

Associated Papers

Coagulation abnormalities and vascular complications are common in PGM1-CDG.

Radenkovic S et al.

Molecular Genetics and Metabolism, 2024

38968673 (PubMed )
Supplement: NIHMS2125712-supplement-Supplementary_material.xlsx › Sup_Tab_2
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."